2 recherche sur le mot-clé 'Prosopagnosia'

Face individual identity recognition: a potential endophenotype in autism / Ilaria MINIO-PALUELLO in Molecular Autism, 11 (2020)  

Public ISBD [article]  inMolecular Autism > 11 (2020) . - 81 p. Titre : Face individual identity recognition: a potential endophenotype in autism Type de document : Texte imprimé et/ou numérique Auteurs : Ilaria MINIO-PALUELLO, Auteur ; Giuseppina PORCIELLO, Auteur ; Alvaro PASCUAL-LEONE, Auteur ; Simon BARON-COHEN, Auteur Article en page(s) : 81 p. Langues : Anglais (eng) Mots-clés : Autism  Emotion recognition  Endophenotype  Face memory  Heterogeneity  Individual identity recognition  Prosopagnosia  Social memory  Theory of mind  Neuroelectrics, Neosync, NovaVision, Magstim, and Cognito and is listed as an  inventor on several issued and pending patents on the real-time integration of  transcranial magnetic stimulation with electroencephalography and magnetic resonance  imaging. The other authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Face individual identity recognition skill is heritable and independent of intellectual ability. Difficulties in face individual identity recognition are present in autistic individuals and their family members and are possibly linked to oxytocin polymorphisms in families with an autistic child. While it is reported that developmental prosopagnosia (i.e., impaired face identity recognition) occurs in 2-3% of the general population, no prosopagnosia prevalence estimate is available for autism. Furthermore, an autism within-group approach has not been reported towards characterizing impaired face memory and to investigate its possible links to social and communication difficulties. METHODS: The present study estimated the prevalence of prosopagnosia in 80 autistic adults with no intellectual disability, investigated its cognitive characteristics and links to autism symptoms' severity, personality traits, and mental state understanding from the eye region by using standardized tests and questionnaires. RESULTS: More than one third of autistic participants showed prosopagnosia. Their face memory skill was not associated with their symptom's severity, empathy, alexithymia, or general intelligence. Face identity recognition was instead linked to mental state recognition from the eye region only in autistic individuals who had prosopagnosia, and this relationship did not depend on participants' basic face perception skills. Importantly, we found that autistic participants were not aware of their face memory skills. LIMITATIONS: We did not test an epidemiological sample, and additional work is necessary to establish whether these results generalize to the entire autism spectrum. CONCLUSIONS: Impaired face individual identity recognition meets the criteria to be a potential endophenotype in autism. In the future, testing for face memory could be used to stratify autistic individuals into genetically meaningful subgroups and be translatable to autism animal models. En ligne : http://dx.doi.org/10.1186/s13229-020-00371-0 Permalink : http://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=4334 [article] Face individual identity recognition: a potential endophenotype in autism [Texte imprimé et/ou numérique] / Ilaria MINIO-PALUELLO, Auteur ; Giuseppina PORCIELLO, Auteur ; Alvaro PASCUAL-LEONE, Auteur ; Simon BARON-COHEN, Auteur . - 81 p. Langues : Anglais (eng) in Molecular Autism > 11 (2020) . - 81 p. Mots-clés : Autism  Emotion recognition  Endophenotype  Face memory  Heterogeneity  Individual identity recognition  Prosopagnosia  Social memory  Theory of mind  Neuroelectrics, Neosync, NovaVision, Magstim, and Cognito and is listed as an  inventor on several issued and pending patents on the real-time integration of  transcranial magnetic stimulation with electroencephalography and magnetic resonance  imaging. The other authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Face individual identity recognition skill is heritable and independent of intellectual ability. Difficulties in face individual identity recognition are present in autistic individuals and their family members and are possibly linked to oxytocin polymorphisms in families with an autistic child. While it is reported that developmental prosopagnosia (i.e., impaired face identity recognition) occurs in 2-3% of the general population, no prosopagnosia prevalence estimate is available for autism. Furthermore, an autism within-group approach has not been reported towards characterizing impaired face memory and to investigate its possible links to social and communication difficulties. METHODS: The present study estimated the prevalence of prosopagnosia in 80 autistic adults with no intellectual disability, investigated its cognitive characteristics and links to autism symptoms' severity, personality traits, and mental state understanding from the eye region by using standardized tests and questionnaires. RESULTS: More than one third of autistic participants showed prosopagnosia. Their face memory skill was not associated with their symptom's severity, empathy, alexithymia, or general intelligence. Face identity recognition was instead linked to mental state recognition from the eye region only in autistic individuals who had prosopagnosia, and this relationship did not depend on participants' basic face perception skills. Importantly, we found that autistic participants were not aware of their face memory skills. LIMITATIONS: We did not test an epidemiological sample, and additional work is necessary to establish whether these results generalize to the entire autism spectrum. CONCLUSIONS: Impaired face individual identity recognition meets the criteria to be a potential endophenotype in autism. In the future, testing for face memory could be used to stratify autistic individuals into genetically meaningful subgroups and be translatable to autism animal models. En ligne : http://dx.doi.org/10.1186/s13229-020-00371-0 Permalink : http://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=4334

Critical region within 22q11.2 linked to higher rate of autism spectrum disorder / Caitlin C. CLEMENTS in Molecular Autism, 8 (2017)  

Public ISBD [article]  inMolecular Autism > 8 (2017) . - 58p. Titre : Critical region within 22q11.2 linked to higher rate of autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : Caitlin C. CLEMENTS, Auteur ; T. L. WENGER, Auteur ; A. R. ZOLTOWSKI, Auteur ; Jennifer R. BERTOLLO, Auteur ; J. S. MILLER, Auteur ; A. B. DE MARCHENA, Auteur ; L. M. MITTEER, Auteur ; J. C. CAREY, Auteur ; B. E. YERYS, Auteur ; E. H. ZACKAI, Auteur ; B. S. EMANUEL, Auteur ; D. M. MCDONALD-MCGINN, Auteur ; Robert T. SCHULTZ, Auteur Article en page(s) : 58p. Langues : Anglais (eng) Mots-clés : 22q11.2 deletion syndrome  22q11.2 duplication syndrome  Atypical  Autism spectrum disorder  Face processing  Nested  Prosopagnosia  Ranbp1  Screening  Syndromic autism Index. décimale : PER Périodiques Résumé : BACKGROUND: Previous studies have reported no clear critical region for medical comorbidities in children with deletions or duplications of 22q11.2. The purpose of this study was to evaluate whether individuals with small nested deletions or duplications of the LCR-A to B region of 22q11.2 show an elevated rate of autism spectrum disorder (ASD) compared to individuals with deletions or duplications that do not include this region. METHODS: We recruited 46 patients with nested deletions (n = 33) or duplications (n = 13) of 22q11.2, including LCR-A to B (ndel = 11), LCR-A to C (ndel = 4), LCR-B to D (ndel = 14; ndup = 8), LCR-C to D (ndel = 4; ndup = 2), and smaller nested regions (n = 3). Parent questionnaire, record review, and, for a subset, in-person evaluation were used for ASD diagnostic classification. Rates of ASD in individuals with involvement of LCR-B to LCR-D were compared with Fisher's exact test to LCR-A to LCR-B for deletions, and to a previously published sample of LCR-A to LCR-D for duplications. The rates of medical comorbidities and psychiatric diagnoses were determined from questionnaires and chart review. We also report group mean differences on psychiatric questionnaires. RESULTS: Individuals with deletions involving LCR-A to B showed a 39-44% rate of ASD compared to 0% in individuals whose deletions did not involve LCR-A to B. We observed similar rates of medical comorbidities in individuals with involvement of LCR-A to B and LCR-B to D for both duplications and deletions, consistent with prior studies. CONCLUSIONS: Children with nested deletions of 22q11.2 may be at greater risk for autism spectrum disorder if the region includes LCR-A to LCR-B. Replication is needed. En ligne : http://dx.doi.org/10.1186/s13229-017-0171-7 Permalink : http://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=3299 [article] Critical region within 22q11.2 linked to higher rate of autism spectrum disorder [Texte imprimé et/ou numérique] / Caitlin C. CLEMENTS, Auteur ; T. L. WENGER, Auteur ; A. R. ZOLTOWSKI, Auteur ; Jennifer R. BERTOLLO, Auteur ; J. S. MILLER, Auteur ; A. B. DE MARCHENA, Auteur ; L. M. MITTEER, Auteur ; J. C. CAREY, Auteur ; B. E. YERYS, Auteur ; E. H. ZACKAI, Auteur ; B. S. EMANUEL, Auteur ; D. M. MCDONALD-MCGINN, Auteur ; Robert T. SCHULTZ, Auteur . - 58p. Langues : Anglais (eng) in Molecular Autism > 8 (2017) . - 58p. Mots-clés : 22q11.2 deletion syndrome  22q11.2 duplication syndrome  Atypical  Autism spectrum disorder  Face processing  Nested  Prosopagnosia  Ranbp1  Screening  Syndromic autism Index. décimale : PER Périodiques Résumé : BACKGROUND: Previous studies have reported no clear critical region for medical comorbidities in children with deletions or duplications of 22q11.2. The purpose of this study was to evaluate whether individuals with small nested deletions or duplications of the LCR-A to B region of 22q11.2 show an elevated rate of autism spectrum disorder (ASD) compared to individuals with deletions or duplications that do not include this region. METHODS: We recruited 46 patients with nested deletions (n = 33) or duplications (n = 13) of 22q11.2, including LCR-A to B (ndel = 11), LCR-A to C (ndel = 4), LCR-B to D (ndel = 14; ndup = 8), LCR-C to D (ndel = 4; ndup = 2), and smaller nested regions (n = 3). Parent questionnaire, record review, and, for a subset, in-person evaluation were used for ASD diagnostic classification. Rates of ASD in individuals with involvement of LCR-B to LCR-D were compared with Fisher's exact test to LCR-A to LCR-B for deletions, and to a previously published sample of LCR-A to LCR-D for duplications. The rates of medical comorbidities and psychiatric diagnoses were determined from questionnaires and chart review. We also report group mean differences on psychiatric questionnaires. RESULTS: Individuals with deletions involving LCR-A to B showed a 39-44% rate of ASD compared to 0% in individuals whose deletions did not involve LCR-A to B. We observed similar rates of medical comorbidities in individuals with involvement of LCR-A to B and LCR-B to D for both duplications and deletions, consistent with prior studies. CONCLUSIONS: Children with nested deletions of 22q11.2 may be at greater risk for autism spectrum disorder if the region includes LCR-A to LCR-B. Replication is needed. En ligne : http://dx.doi.org/10.1186/s13229-017-0171-7 Permalink : http://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=3299